ClinVar Miner

Submissions for variant NM_001127198.5(TMC6):c.1214G>A (p.Arg405His)

gnomAD frequency: 0.00090  dbSNP: rs149023121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630742 SCV000751709 likely benign Epidermodysplasia verruciformis 2023-12-20 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281050 SCV001468474 uncertain significance Epidermodysplasia verruciformis, susceptibility to, 1 2021-03-30 criteria provided, single submitter clinical testing TMC6 NM_007267.7 exon 10 p.Arg405His (c.1214G>A): This variant has not been reported in the literature but is present in 0.2% (54/24758) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-76118699-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:526326). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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